TY - JOUR AU - Freyer, Laina AU - Nowotschin, Sonja AU - Pirity, Melinda K. AU - Baldini, Antonio AU - Morrow, Bernice E. PY - 2013 DA - 2013/08/23 TI - Conditional and constitutive expression of a Tbx1-GFP fusion protein in mice JO - BMC Developmental Biology SP - 33 VL - 13 IS - 1 AB - Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is caused by a 1.5-3 Mb microdeletion of chromosome 22q11.2, frequently referred to as 22q11.2 deletion syndrome (22q11DS). This region includes TBX1, a T-box transcription factor gene that contributes to the etiology of 22q11DS. The requirement for TBX1 in mammalian development is dosage-sensitive, such that loss-of-function (LOF) and gain-of-function (GOF) of TBX1 in both mice and humans results in disease relevant congenital malformations. SN - 1471-213X UR - https://doi.org/10.1186/1471-213X-13-33 DO - 10.1186/1471-213X-13-33 ID - Freyer2013 ER -